This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Leu288_Val294delinsProThrAlaSerLeuProMetThrPro;Tyr297_Asp298delinsAlaGlu;Val300_Ile301del;Asp304_Ala307delinsPro;Asp309Thr;Leu311_Ile320delinsTrpLeuTrpThrGlySerThrAlaThrSer]
CA10585430
ENST00000455727.6:c.863_872del